Routine heart tests and echocardiography — a non-invasive test that uses sound waves to create moving pictures of the heart — may not be necessary for patients with hypermobile Ehlers-Danlos syndrome (hEDS) who have no family history of heart problems, a small study reports.
The study, “Utilization of echocardiography in Ehlers‐Danlos syndrome,” was published in the journal Congenital Heart Disease.
hEDS is the most common subtype of EDS, and is characterized by generalized joint hypermobility, a condition in which joints easily move beyond an expected normal range. hEDS is usually not associated with significant cardiac complications, and the use of echocardiography in these patients is not well-reported.
A group of clinicians at Children’s Hospital and Medical Center at Omaha, Nebraska, evaluated the frequency and clinical utility of echocardiographic in patients with all forms of EDS.
They analyzed data from 258 people diagnosed with EDS from January 2013 to December 2018. hEDS was suspected in 236 patients (91%), while 16 had classic EDS, four had vascular EDS, and two had other types of EDS (kyphoscoliotic and dermatospraxis).
All patients with classic and vascular EDS underwent a cardiac evaluation, together with 120 patients (51%) suspected of having hEDS. Among these 120 hEDS patients, eight (6%) showed abnormal cardiac signs.
An echocardiography was given to 208 of the hEDS patients, and to people with all other forms of EDS. A total of 44 hEDS patients also underwent at least one more echocardiography, despite a normal first scan.
Results showed abnormalities in 17 patients who underwent echocardiography due to signs of any type of EDS.
The most common heart defect was dilation of the aorta — the main blood vessel that carries blood away from the heart to the rest of your body. Aorta dilation was found in 12 patients (4%).
Other less common heart problems included problems in the mitral valve (the valve that separates the two chambers in the left side of the heart), and in the aortic valve, located between the main pumping chamber the heart (left ventricle), and the aorta.
When researchers excluded cases positive for other genetic conditions, no hEDS patients showed signs of aorta dilation.
This finding is in clear contradiction with the 2017 hEDS diagnostic guidelines that include dilation of the aorta as a “supportive feature for a diagnosis of hEDS despite the lack of evidence for significant aortic pathology [disease] in these patients,” the researchers wrote.
All four vascular EDS patients analyzed had normal echocardiograms, but seven out of the 16 people with classic EDS showed dilation of the aorta. Cardiovascular complications occurred in six patients – four with classical and two with vascular EDS.
Analysis also revealed that the echocardiograms for hEDS patients were requested by pediatricians (45%), cardiologists (33%), geneticists (10%), rheumatologists (5%), and other providers (7%).
Besides a diagnosis of classical EDS, researchers found that other predictors of abnormal heart scans included a family history of aneurysm, and an abnormal cardiac examination. Patients whose primary symptom was pain were less likely to have an abnormal heart scan than those without pain.
“In light of the absence of cardiac pathology in patients with hypermobile Ehlers-Danlos syndrome, routine cardiac evaluation and echocardiography are not required” for these patients, researchers wrote.
Echocardiography, however, may carry important information for hEDS patients with “a positive family history for aneurysms or abnormal auscultatory examination, particularly in those who do not have pain as their primary symptom,” the team concluded.